Submissions for variant NM_000271.5(NPC1):c.2131-5_2131-4del

dbSNP: rs11299077

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625007	SCV000743482	benign	Niemann-Pick disease, type C1	2016-06-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000675564	SCV001946417	benign	not provided	2019-08-10	criteria provided, single submitter	clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	RCV000625007	SCV001984533	benign	Niemann-Pick disease, type C1	2020-04-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625007	SCV000745703	benign	Niemann-Pick disease, type C1	2017-01-06	no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675564	SCV000801255	benign	not provided	2015-10-22	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000675564	SCV001798433	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700263	SCV001925479	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000625007	SCV002095195	benign	Niemann-Pick disease, type C1	2019-09-27	no assertion criteria provided	clinical testing